G11A (p.Gly11Ala) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
G11A (p.Gly11Ala) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G11A (p.Gly11Ala) variant details
- p.Gly11Ala
- gnomAD 15-39934227-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.16
- CADD 21.40
- PolyPhen-2 0.07
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available